Results 41 to 50 of about 8,758 (210)

A novel protective prion protein variant that colocalizes with kuru exposure. [PDF]

, 2009
BACKGROUND: Kuru is a devastating epidemic prion disease that affected a highly restricted geographic area of the Papua New Guinea highlands; at its peak, it predominantly affected adult women and children of both sexes.
Whittaker, John, Mein, C., Shah, Paresh, Campbell, T., Whitfield, Jerome, Mein, Charles A, Whittaker, J., Alpers, Michael Philip, Hummerich, H., Collinge, J., Hummerich, Holger, Collinge, John, Uphill, J., Poulter, Mark, Beck, Jon, Al-Dujaily, Huda, Mead, S., Al-Dujaily, H., Alpers, Michael P, Beck, J., Verzilli, C., Mead, Simon, Verzilli, Claudio, Shah, P., Uphill, James, Poulter, M., Campbell, Tracy   +26 more
core   +1 more source

Creutzfeldt–Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature

Prion, 2022
Genetic Creutzfeldt–Jakob disease (gCJD) is a prion disease caused by mutations in the prion protein gene (PRNP). It has an autosomal dominant inheritance, so gCJD with homozygous mutations is extremely rare, and the influence of homozygous mutations on ...
Yuheng Shan, Jiatang Zhang, Yuying Cen, Xiaojiao Xu, Ruishu Tan, Jiahua Zhao, Shengyuan Yu   +6 more
doaj   +1 more source

APP deficiency and HTRA2 modulates PrPc proteostasis in human cancer cells

BBA Advances, 2022
Cellular protein homeostasis (proteostasis) requires an accurate balance between protein biosynthesis, folding, and degradation, and its instability is causally related to human diseases and cancers. Here, we created numerous engineered cancer cell lines
Denis S.F. Biard, Rafika Jarray, Nicolas Rebergue, François Leteurtre, Dulce Papy-Garcia   +4 more
doaj   +1 more source

Prion proteins (PRNP and PRND) are over‐expressed in osteosarcoma [PDF]

Journal of Orthopaedic Research, 2011
AbstractAlthough osteosarcoma is the most common bone malignancy, the molecular and cellular mechanisms influencing its pathogenesis have remained elusive. Prion proteins (PRNP and PRND), known mostly for its involvement in neurodegenerative spongiform encephalopathies, have been recently demonstrated to be involved in resistance to apoptosis ...
SOLLAZZO, Vincenzo, GALASSO, Marco, VOLINIA, Stefano, CARINCI, Francesco   +3 more
openaire   +3 more sources

Age-dependent impairment of eyeblink conditioning in prion protein-deficient mice. [PDF]

PLoS ONE, 2013
Mice lacking the prion protein (PrP(C)) gene (Prnp), Ngsk Prnp (0/0) mice, show late-onset cerebellar Purkinje cell (PC) degeneration because of ectopic overexpression of PrP(C)-like protein (PrPLP/Dpl).
Yasushi Kishimoto, Moritoshi Hirono, Ryuichiro Atarashi, Suehiro Sakaguchi, Tohru Yoshioka, Shigeru Katamine, Yutaka Kirino   +6 more
doaj   +1 more source

Novel Prion Protein Gene Polymorphisms in Awassi Sheep in Three Regions of the Fertile Crescent

Veterinary Sciences, 2023
Scrapie is a fatal, neurodegenerative disease that affects sheep and goats, and genetic susceptibility to scrapie in sheep is associated with polymorphisms in the prion protein (PRNP) gene. The aim of this study is to identify PRNP polymorphism in Awassi
Faisal S. Rashaydeh, Mehmet A. Yildiz, Abdulrahman S. Alharthi, Hani H. Al-Baadani, Ibrahim A. Alhidary, Hasan Meydan   +5 more
doaj   +1 more source

A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease

BMC Medical Genetics, 2011
Background Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non ...
Will Robert G, Knight Richard SG, Croes Esther A, Bishop Matthew T, Sanchez-Juan Pascual, van Duijn Cornelia M, Manson Jean C   +6 more
doaj   +1 more source

Relationship between PRNP expression and immune infiltrating cells in BRCA.

, 2023
(A) Twenty-four types of immune-infiltrating cells related to PRNP expression. The absolute values of Spearman R-value are indicated by the size of round dots.
Changwei Lin (630203), Jiaqing He (1499947), Liying Song (2802685), Xiaopei Tong (9562448)   +3 more
core   +1 more source

Goats naturally devoid of PrPC are resistant to scrapie

Veterinary Research, 2020
Prion diseases are progressive and fatal, neurodegenerative disorders described in humans and animals. According to the “protein-only” hypothesis, the normal host-encoded prion protein (PrPC) is converted into a pathological and infectious form (PrPSc ...
Øyvind Salvesen, Arild Espenes, Malin R. Reiten, Tram T. Vuong, Giulia Malachin, Linh Tran, Olivier Andréoletti, Ingrid Olsaker, Sylvie L. Benestad, Michael A. Tranulis, Cecilie Ersdal   +10 more
doaj   +1 more source

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains. [PDF]

Brain Pathol
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Eraña H, Vidal E, Fernández-Borges N, Charco JM, Díaz-Domínguez CM, Sampedro-Torres-Quevedo C, Galarza-Ahumada J, Fernández-Muñoz E, San-Juan-Ansoleaga M, Pérez-Castro MÁ, Gonçalves-Anjo N, Piñeiro P, Giler S, González-Martín N, Lorenzo NL, Manero-Azua A, Perez de Nanclares G, Geijo M, Sánchez-Martín MA, Requena JR, Castilla J.   +20 more
europepmc   +2 more sources